COSMIC:
COSN17137465 (not active)
COSN17142171 (not active)
COSN17145996 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08280185 (AFR)
Genomes Max Group AF
0.08280185 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.153928758C>T , CM000669.2:g.153928758C>T | GRCh38 |
| NC_000007.13:g.153625843C>T , CM000669.1:g.153625843C>T | GRCh37 |
| NC_000007.12:g.153256776C>T | NCBI36 |
| NG_033878.1:g.46425C>T | |
| NG_033878.2:g.185773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.60+179750C>T | ENSP00000516215.1:n.60+179750C>T | |
| ENST00000404039.5:c.51+41024C>T | ENSP00000385578.1:n.51+41024C>T | |
| NM_001039350.2:c.51+41024C>T | NP_001034439.1:n.51+41024C>T | |
| XM_011515865.1:c.51+41024C>T | XP_011514167.1:n.51+41024C>T | |
| NM_001364497.1:c.60+179750C>T | NP_001351426.1:n.60+179750C>T | |
| NM_001364498.1:c.60+179750C>T | NP_001351427.1:n.60+179750C>T | |
| NM_001364499.1:c.60+179750C>T | NP_001351428.1:n.60+179750C>T | |
| NM_001364500.1:c.60+179750C>T | NP_001351429.1:n.60+179750C>T | |
| NM_001364501.1:c.51+41024C>T | NP_001351430.1:n.51+41024C>T | |
| NR_157195.1:n.693+41024C>T | ||
| NM_001039350.3:c.51+41024C>T | NP_001034439.1:n.51+41024C>T | |
| NM_001364497.2:c.60+179750C>T | NP_001351426.1:n.60+179750C>T | |
| NM_001364498.2:c.60+179750C>T | NP_001351427.1:n.60+179750C>T | |
| NM_001364499.2:c.60+179750C>T | NP_001351428.1:n.60+179750C>T | |
| NM_001364500.2:c.60+179750C>T | NP_001351429.1:n.60+179750C>T | |
| NM_001364501.2:c.51+41024C>T | NP_001351430.1:n.51+41024C>T | |
| NR_157195.2:n.693+41024C>T |